| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.55957309C>A | CA385217666 | PMEL | c.994G>T (p.Val332Phe) c.847G>T (p.Val283Phe) c.832G>T (p.Val278Phe) c.547G>T (p.Val183Phe) c.656G>T n.34G>T c.358+1164G>T (n.358+1164G>T) c.736G>T (p.Val246Phe) n.730G>T | |
| 12 | g.55957309C= | CA2038181492 | PMEL | c.994G= (p.Val332=) c.847G= (p.Val283=) c.832G= (p.Val278=) c.547G= (p.Val183=) c.656G= n.34G= c.358+1164G= (n.358+1164G=) c.736G= (p.Val246=) n.730G= | |
| 12 | g.55957309C>G | CA385217663 | PMEL | c.994G>C (p.Val332Leu) c.847G>C (p.Val283Leu) c.832G>C (p.Val278Leu) c.547G>C (p.Val183Leu) c.656G>C n.34G>C c.358+1164G>C (n.358+1164G>C) c.736G>C (p.Val246Leu) n.730G>C | |
| 12 | g.55957309C>T | CA6620091 | PMEL | c.994G>A (p.Val332Ile) c.847G>A (p.Val283Ile) c.832G>A (p.Val278Ile) c.547G>A (p.Val183Ile) c.656G>A n.34G>A c.358+1164G>A (n.358+1164G>A) c.736G>A (p.Val246Ile) n.730G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.55957310T>A | CA385217667 | PMEL | c.993A>T (p.Glu331Asp) c.846A>T (p.Glu282Asp) c.831A>T (p.Glu277Asp) c.546A>T (p.Glu182Asp) c.655A>T n.33A>T c.358+1163A>T (n.358+1163A>T) c.735A>T (p.Glu245Asp) n.729A>T | |
| 12 | g.55957310T>C | CA480364945 | PMEL | c.993A>G (p.Glu331=) c.846A>G (p.Glu282=) c.831A>G (p.Glu277=) c.546A>G (p.Glu182=) c.655A>G n.33A>G c.358+1163A>G (n.358+1163A>G) c.735A>G (p.Glu245=) n.729A>G | |
| 12 | g.55957310T>G | CA385217668 | PMEL | c.993A>C (p.Glu331Asp) c.846A>C (p.Glu282Asp) c.831A>C (p.Glu277Asp) c.546A>C (p.Glu182Asp) c.655A>C n.33A>C c.358+1163A>C (n.358+1163A>C) c.735A>C (p.Glu245Asp) n.729A>C | |
| 12 | g.55957311T>A | CA385217671 | PMEL | c.992A>T (p.Glu331Val) c.845A>T (p.Glu282Val) c.830A>T (p.Glu277Val) c.545A>T (p.Glu182Val) c.654A>T n.32A>T c.358+1162A>T (n.358+1162A>T) c.734A>T (p.Glu245Val) n.728A>T | |
| 12 | g.55957311T>C | CA385217672 | PMEL | c.992A>G (p.Glu331Gly) c.845A>G (p.Glu282Gly) c.830A>G (p.Glu277Gly) c.545A>G (p.Glu182Gly) c.654A>G n.32A>G c.358+1162A>G (n.358+1162A>G) c.734A>G (p.Glu245Gly) n.728A>G | |
| 12 | g.55957311T>G | CA385217674 | PMEL | c.992A>C (p.Glu331Ala) c.845A>C (p.Glu282Ala) c.830A>C (p.Glu277Ala) c.545A>C (p.Glu182Ala) c.654A>C n.32A>C c.358+1162A>C (n.358+1162A>C) c.734A>C (p.Glu245Ala) n.728A>C | |
| 12 | g.55957312C>A | CA385217675 | PMEL | c.991G>T (p.Glu331Ter) c.844G>T (p.Glu282Ter) c.829G>T (p.Glu277Ter) c.544G>T (p.Glu182Ter) c.653G>T n.31G>T c.358+1161G>T (n.358+1161G>T) c.733G>T (p.Glu245Ter) n.727G>T | |
| 12 | g.55957312C>G | CA385217678 | PMEL | c.991G>C (p.Glu331Gln) c.844G>C (p.Glu282Gln) c.829G>C (p.Glu277Gln) c.544G>C (p.Glu182Gln) c.653G>C n.31G>C c.358+1161G>C (n.358+1161G>C) c.733G>C (p.Glu245Gln) n.727G>C | |
| 12 | g.55957312C>T | CA385217677 | PMEL | c.991G>A (p.Glu331Lys) c.844G>A (p.Glu282Lys) c.829G>A (p.Glu277Lys) c.544G>A (p.Glu182Lys) c.653G>A n.31G>A c.358+1161G>A (n.358+1161G>A) c.733G>A (p.Glu245Lys) n.727G>A | |
| 12 | g.55957313T>A | CA480364950 | PMEL | c.990A>T (p.Thr330=) c.843A>T (p.Thr281=) c.828A>T (p.Thr276=) c.543A>T (p.Thr181=) c.652A>T n.30A>T c.358+1160A>T (n.358+1160A>T) c.732A>T (p.Thr244=) n.726A>T | |
| 12 | g.55957313T>C | CA6620092 | PMEL | c.990A>G (p.Thr330=) c.843A>G (p.Thr281=) c.828A>G (p.Thr276=) c.543A>G (p.Thr181=) c.652A>G n.30A>G c.358+1160A>G (n.358+1160A>G) c.732A>G (p.Thr244=) n.726A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.55957313T>G | CA480364951 | PMEL | c.990A>C (p.Thr330=) c.843A>C (p.Thr281=) c.828A>C (p.Thr276=) c.543A>C (p.Thr181=) c.652A>C n.30A>C c.358+1160A>C (n.358+1160A>C) c.732A>C (p.Thr244=) n.726A>C | |
| 12 | g.55957313T= | CA2038181497 | PMEL | c.990A= (p.Thr330=) c.843A= (p.Thr281=) c.828A= (p.Thr276=) c.543A= (p.Thr181=) c.652A= n.30A= c.358+1160A= (n.358+1160A=) c.732A= (p.Thr244=) n.726A= | |
| 12 | g.55957314G>A | CA237591030 | PMEL | c.989C>T (p.Thr330Ile) c.842C>T (p.Thr281Ile) c.827C>T (p.Thr276Ile) c.542C>T (p.Thr181Ile) c.651C>T n.29C>T c.358+1159C>T (n.358+1159C>T) c.731C>T (p.Thr244Ile) n.725C>T | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.55957314G>C | CA385217681 | PMEL | c.989C>G (p.Thr330Arg) c.842C>G (p.Thr281Arg) c.827C>G (p.Thr276Arg) c.542C>G (p.Thr181Arg) c.651C>G n.29C>G c.358+1159C>G (n.358+1159C>G) c.731C>G (p.Thr244Arg) n.725C>G | |
| 12 | g.55957314G= | CA2038181501 | PMEL | c.989C= (p.Thr330=) c.842C= (p.Thr281=) c.827C= (p.Thr276=) c.542C= (p.Thr181=) c.651C= n.29C= c.358+1159C= (n.358+1159C=) c.731C= (p.Thr244=) n.725C= | |
| 12 | g.55957314G>T | CA385217683 | PMEL | c.989C>A (p.Thr330Lys) c.842C>A (p.Thr281Lys) c.827C>A (p.Thr276Lys) c.542C>A (p.Thr181Lys) c.651C>A n.29C>A c.358+1159C>A (n.358+1159C>A) c.731C>A (p.Thr244Lys) n.725C>A | |
| 12 | g.55957315T>A | CA385217685 | PMEL | c.988A>T (p.Thr330Ser) c.841A>T (p.Thr281Ser) c.826A>T (p.Thr276Ser) c.541A>T (p.Thr181Ser) c.650A>T n.28A>T c.358+1158A>T (n.358+1158A>T) c.730A>T (p.Thr244Ser) n.724A>T | |
| 12 | g.55957315T>C | CA385217687 | PMEL | c.988A>G (p.Thr330Ala) c.841A>G (p.Thr281Ala) c.826A>G (p.Thr276Ala) c.541A>G (p.Thr181Ala) c.650A>G n.28A>G c.358+1158A>G (n.358+1158A>G) c.730A>G (p.Thr244Ala) n.724A>G | gnomAD v4 |
| 12 | g.55957315T>G | CA385217686 | PMEL | c.988A>C (p.Thr330Pro) c.841A>C (p.Thr281Pro) c.826A>C (p.Thr276Pro) c.541A>C (p.Thr181Pro) c.650A>C n.28A>C c.358+1158A>C (n.358+1158A>C) c.730A>C (p.Thr244Pro) n.724A>C | |
| 12 | g.55957316A= | CA2038181502 | PMEL | c.987T= (p.Thr329=) c.840T= (p.Thr280=) c.825T= (p.Thr275=) c.540T= (p.Thr180=) c.649T= n.27T= c.358+1157T= (n.358+1157T=) c.729T= (p.Thr243=) n.723T= | |
| 12 | g.55957316A>C | CA480364953 | PMEL | c.987T>G (p.Thr329=) c.840T>G (p.Thr280=) c.825T>G (p.Thr275=) c.540T>G (p.Thr180=) c.649T>G n.27T>G c.358+1157T>G (n.358+1157T>G) c.729T>G (p.Thr243=) n.723T>G | gnomAD v4 |
| 12 | g.55957316A>G | CA480364954 | PMEL | c.987T>C (p.Thr329=) c.840T>C (p.Thr280=) c.825T>C (p.Thr275=) c.540T>C (p.Thr180=) c.649T>C n.27T>C c.358+1157T>C (n.358+1157T>C) c.729T>C (p.Thr243=) n.723T>C | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.55957316A>T | CA480364956 | PMEL | c.987T>A (p.Thr329=) c.840T>A (p.Thr280=) c.825T>A (p.Thr275=) c.540T>A (p.Thr180=) c.649T>A n.27T>A c.358+1157T>A (n.358+1157T>A) c.729T>A (p.Thr243=) n.723T>A | |
| 12 | g.55957317G>A | CA385217689 | PMEL | c.986C>T (p.Thr329Ile) c.839C>T (p.Thr280Ile) c.824C>T (p.Thr275Ile) c.539C>T (p.Thr180Ile) c.648C>T n.26C>T c.358+1156C>T (n.358+1156C>T) c.728C>T (p.Thr243Ile) n.722C>T | |
| 12 | g.55957317G>C | CA385217690 | PMEL | c.986C>G (p.Thr329Ser) c.839C>G (p.Thr280Ser) c.824C>G (p.Thr275Ser) c.539C>G (p.Thr180Ser) c.648C>G n.26C>G c.358+1156C>G (n.358+1156C>G) c.728C>G (p.Thr243Ser) n.722C>G | |
| 12 | g.55957317G>T | CA385217692 | PMEL | c.986C>A (p.Thr329Asn) c.839C>A (p.Thr280Asn) c.824C>A (p.Thr275Asn) c.539C>A (p.Thr180Asn) c.648C>A n.26C>A c.358+1156C>A (n.358+1156C>A) c.728C>A (p.Thr243Asn) n.722C>A | |
| 12 | g.55957318T>A | CA385217693 | PMEL | c.985A>T (p.Thr329Ser) c.838A>T (p.Thr280Ser) c.823A>T (p.Thr275Ser) c.538A>T (p.Thr180Ser) c.647A>T n.25A>T c.358+1155A>T (n.358+1155A>T) c.727A>T (p.Thr243Ser) n.721A>T | |
| 12 | g.55957318T>C | CA385217694 | PMEL | c.985A>G (p.Thr329Ala) c.838A>G (p.Thr280Ala) c.823A>G (p.Thr275Ala) c.538A>G (p.Thr180Ala) c.647A>G n.25A>G c.358+1155A>G (n.358+1155A>G) c.727A>G (p.Thr243Ala) n.721A>G | |
| 12 | g.55957318T>G | CA385217695 | PMEL | c.985A>C (p.Thr329Pro) c.838A>C (p.Thr280Pro) c.823A>C (p.Thr275Pro) c.538A>C (p.Thr180Pro) c.647A>C n.25A>C c.358+1155A>C (n.358+1155A>C) c.727A>C (p.Thr243Pro) n.721A>C | |
| 12 | g.55957319A>C | CA480364957 | PMEL | c.984T>G (p.Pro328=) c.837T>G (p.Pro279=) c.822T>G (p.Pro274=) c.537T>G (p.Pro179=) c.646T>G n.24T>G c.358+1154T>G (n.358+1154T>G) c.726T>G (p.Pro242=) n.720T>G | |
| 12 | g.55957319A>G | CA480364958 | PMEL | c.984T>C (p.Pro328=) c.837T>C (p.Pro279=) c.822T>C (p.Pro274=) c.537T>C (p.Pro179=) c.646T>C n.24T>C c.358+1154T>C (n.358+1154T>C) c.726T>C (p.Pro242=) n.720T>C | |
| 12 | g.55957319A>T | CA480364959 | PMEL | c.984T>A (p.Pro328=) c.837T>A (p.Pro279=) c.822T>A (p.Pro274=) c.537T>A (p.Pro179=) c.646T>A n.24T>A c.358+1154T>A (n.358+1154T>A) c.726T>A (p.Pro242=) n.720T>A | |
| 12 | g.55957320G>A | CA385217697 | PMEL | c.983C>T (p.Pro328Leu) c.836C>T (p.Pro279Leu) c.821C>T (p.Pro274Leu) c.536C>T (p.Pro179Leu) c.645C>T n.23C>T c.358+1153C>T (n.358+1153C>T) c.725C>T (p.Pro242Leu) n.719C>T | |
| 12 | g.55957320G>C | CA385217698 | PMEL | c.983C>G (p.Pro328Arg) c.836C>G (p.Pro279Arg) c.821C>G (p.Pro274Arg) c.536C>G (p.Pro179Arg) c.645C>G n.23C>G c.358+1153C>G (n.358+1153C>G) c.725C>G (p.Pro242Arg) n.719C>G | |
| 12 | g.55957320G>T | CA385217700 | PMEL | c.983C>A (p.Pro328His) c.836C>A (p.Pro279His) c.821C>A (p.Pro274His) c.536C>A (p.Pro179His) c.645C>A n.23C>A c.358+1153C>A (n.358+1153C>A) c.725C>A (p.Pro242His) n.719C>A | |
| 12 | g.55957321G>A | CA385217701 | PMEL | c.982C>T (p.Pro328Ser) c.835C>T (p.Pro279Ser) c.820C>T (p.Pro274Ser) c.535C>T (p.Pro179Ser) c.644C>T n.22C>T c.358+1152C>T (n.358+1152C>T) c.724C>T (p.Pro242Ser) n.718C>T | |
| 12 | g.55957321G>C | CA385217704 | PMEL | c.982C>G (p.Pro328Ala) c.835C>G (p.Pro279Ala) c.820C>G (p.Pro274Ala) c.535C>G (p.Pro179Ala) c.644C>G n.22C>G c.358+1152C>G (n.358+1152C>G) c.724C>G (p.Pro242Ala) n.718C>G | |
| 12 | g.55957321G>T | CA385217707 | PMEL | c.982C>A (p.Pro328Thr) c.835C>A (p.Pro279Thr) c.820C>A (p.Pro274Thr) c.535C>A (p.Pro179Thr) c.644C>A n.22C>A c.358+1152C>A (n.358+1152C>A) c.724C>A (p.Pro242Thr) n.718C>A | gnomAD v4 |
| 12 | g.55957322C>A | CA480364965 | PMEL | c.981G>T (p.Val327=) c.834G>T (p.Val278=) c.819G>T (p.Val273=) c.534G>T (p.Val178=) c.643G>T n.21G>T c.358+1151G>T (n.358+1151G>T) c.723G>T (p.Val241=) n.717G>T | |
| 12 | g.55957322C>G | CA480364961 | PMEL | c.981G>C (p.Val327=) c.834G>C (p.Val278=) c.819G>C (p.Val273=) c.534G>C (p.Val178=) c.643G>C n.21G>C c.358+1151G>C (n.358+1151G>C) c.723G>C (p.Val241=) n.717G>C | |
| 12 | g.55957322C>T | CA480364963 | PMEL | c.981G>A (p.Val327=) c.834G>A (p.Val278=) c.819G>A (p.Val273=) c.534G>A (p.Val178=) c.643G>A n.21G>A c.358+1151G>A (n.358+1151G>A) c.723G>A (p.Val241=) n.717G>A | gnomAD v4 |
| 12 | g.55957323A>C | CA385217710 | PMEL | c.980T>G (p.Val327Gly) c.833T>G (p.Val278Gly) c.818T>G (p.Val273Gly) c.533T>G (p.Val178Gly) c.642T>G n.20T>G c.358+1150T>G (n.358+1150T>G) c.722T>G (p.Val241Gly) n.716T>G | |
| 12 | g.55957323A>G | CA385217712 | PMEL | c.980T>C (p.Val327Ala) c.833T>C (p.Val278Ala) c.818T>C (p.Val273Ala) c.533T>C (p.Val178Ala) c.642T>C n.20T>C c.358+1150T>C (n.358+1150T>C) c.722T>C (p.Val241Ala) n.716T>C | |
| 12 | g.55957323A>T | CA385217708 | PMEL | c.980T>A (p.Val327Glu) c.833T>A (p.Val278Glu) c.818T>A (p.Val273Glu) c.533T>A (p.Val178Glu) c.642T>A n.20T>A c.358+1150T>A (n.358+1150T>A) c.722T>A (p.Val241Glu) n.716T>A | |
| 12 | g.55957324C>A | CA385217713 | PMEL | c.979G>T (p.Val327Leu) c.832G>T (p.Val278Leu) c.817G>T (p.Val273Leu) c.532G>T (p.Val178Leu) c.641G>T n.19G>T c.358+1149G>T (n.358+1149G>T) c.721G>T (p.Val241Leu) n.715G>T |